Variant report

Variant	rs10129535
Chromosome Location	chr14:55922017-55922018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10133675	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10138608	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10147924	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10151647	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11850598	0.91[EUR][1000 genomes]
rs11851310	0.88[AFR][1000 genomes]
rs11851435	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8003913	0.85[EUR][1000 genomes]
rs8014380	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs946062	0.85[EUR][1000 genomes]
rs946063	0.81[AFR][1000 genomes]
rs946065	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55913600-55925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:55920400-55922200	Enhancers	Fetal Heart	heart
3	chr14:55920400-55922200	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr14:55920600-55922400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr14:55920600-55922400	Enhancers	Fetal Intestine Small	intestine
6	chr14:55920800-55922200	Enhancers	Fetal Stomach	stomach
7	chr14:55921200-55922200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr14:55921400-55925000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:55921400-55925400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:55921600-55922200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:55921600-55922400	Enhancers	HMEC	breast
12	chr14:55921600-55925000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:55921600-55925400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:55921600-55925600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr14:55921600-55925800	Weak transcription	HSMMtube	muscle
16	chr14:55921800-55922200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:55921800-55922200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:55921800-55922200	Enhancers	NHEK	skin
19	chr14:55921800-55922400	Enhancers	Duodenum Mucosa	Duodenum
20	chr14:55921800-55922400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr14:55921800-55922400	Enhancers	Stomach Mucosa	stomach
22	chr14:55921800-55925000	Weak transcription	GM12878-XiMat	blood
23	chr14:55921800-55925000	Weak transcription	HSMM	muscle
24	chr14:55921800-55925000	Weak transcription	NHDF-Ad	bronchial
25	chr14:55921800-55925200	Weak transcription	A549	lung
26	chr14:55921800-55925400	Weak transcription	NH-A	brain
27	chr14:55921800-55925400	Weak transcription	Osteobl	bone
28	chr14:55921800-55925600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:55921800-55925600	Weak transcription	Right Atrium	heart
30	chr14:55921800-55925800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr14:55921800-55925800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:55921800-55925800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr14:55921800-55930000	Weak transcription	NHLF	lung
34	chr14:55921800-55933800	Weak transcription	Gastric	stomach
35	chr14:55922000-55922200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:55922000-55922200	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr14:55922000-55922400	Enhancers	Hela-S3	cervix
38	chr14:55922000-55924200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:55922000-55925000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:55922000-55925000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:55922000-55925000	Weak transcription	HUVEC	blood vessel
42	chr14:55922000-55925800	Weak transcription	Brain Inferior Temporal Lobe	brain

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